Ovarian tissue cryopreservation and subsequent spontaneous pregnancies in a patient with classic galactosemia

Forges, Thierry; Monnier, Patricia; Leheup, Bruno; Cheillan, David; Brivet, M.; Barbarino, Aurelio; Guéant, Jean-Louis; Feillet, François

doi:10.1016/j.fertnstert.2010.06.014

Cited by 10 publications

(7 citation statements)

References 27 publications

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“…There is a risk of reducing fertility if one ovary is removed. The fluctuating course of this complication is highlighted by the case where ovarian preservation was performed under research protocol in a 14-year-old patient with classic galactosemia [104]. She subsequently had spontaneous pregnancies at ages 19 and 21, without the need for autografting the cryopreserved tissue.…”

Section: Fertility Preservation In Classic Galactosemiamentioning

confidence: 99%

Primary ovarian insufficiency in classic galactosemia: current understanding and future research opportunities

Thakur

Feldman

Puscheck

2017

J Assist Reprod Genet

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Classic galactosemia is an inborn error of the metabolism with devastating consequences. Newborn screening has been successful in markedly reducing the acute neonatal symptoms from this disorder. The dramatic response to dietary treatment is one of the major success stories of newborn screening. However, as children with galactosemia achieve adulthood, they face long-term complications. A majority of women with classic galactosemia develop primary ovarian insufficiency and resulting morbidity. The underlying pathophysiology of this complication is not clear. This review focuses on the reproductive issues seen in girls and women with classic galactosemia. Literature on the effects of classic galactosemia on the female reproductive system was reviewed by an extensive Pubmed search (publications from January 1975 to January 2017) using the keywords: galactosemia, ovarian function/dysfunction, primary ovarian insufficiency/failure, FSH, oxidative stress, fertility preservation. In addition, articles cited in the search articles and literature known to the authors was also included in the review. Our understanding of the role of galactose metabolism in the ovary is limited and the pathogenic mechanisms involved in causing primary ovarian insufficiency are unclear. The relative rarity of galactosemia makes it difficult to accumulate data to determine factors defining timing of ovarian dysfunction or treatment/fertility preservation options for this group of women. In this review, we present reproductive challenges faced by women with classic galactosemia, highlight the gaps in our understanding of mechanisms leading to primary ovarian insufficiency in this population, discuss new advances in fertility preservation options, and recommend collaboration between reproductive medicine and metabolic specialists to improve fertility in these women.

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Section: Fertility Preservation In Classic Galactosemiamentioning

confidence: 99%

Primary ovarian insufficiency in classic galactosemia: current understanding and future research opportunities

Thakur

Feldman

Puscheck

2017

J Assist Reprod Genet

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“…Table 1 summarizes the novel and previously published variations [21,22,24,[26][27][28][29][30][32][33][34][35][36][37][38][39][40] and the corresponding genotypes and phenotypes. The most common nucleotide substitutions were p.Gln188Arg, p.Ser135Leu, p.Lys285Asn and p.Leu195Pro with allele frequencies of 52.6%, 7.1%, 6.2% and 5.7% Notes to Table 1 Abbreviations: * indicates a stop codon;Ex: exon; Int: intron; na: not available; Cat: cataracts; DM: delayed milestones; AMF: Anomalies of Motor Function; SI: speech impairment; OD: ovarian dysfunction; LD: Learning Difficulties; LPT: lack of professional training; LSK: low skilled profession; ID: intellectual disability; WMA: white matter anomalies; ASD: appropriate school degree for age; CPT: complete professional training; ISK: intermediate skilled profession; UD: university diploma.…”

Section: Dna Analysismentioning

confidence: 99%

Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations

Boutron

Marabotti

Facchiano

et al. 2012

Molecular Genetics and Metabolism

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“…In women with POI of any cause, pregnancies are not excluded, owing to the varying and unpredictable course of impaired ovarian function that POI reflects (1), and in general 5%-10% conceive spontaneously (32). Also in women with classic galactosemia, spontaneous pregnancies have been reported regularly despite the presence of POI (4,5,(33)(34)(35)(36)(37). Only one study in a small number of patients (n ¼ 22) has addressed pregnancy attempts in women with classic galactosemia and concluded that most women did not try to become pregnant because they had been told they could not have children (33).…”

mentioning

confidence: 99%

Fertility in adult women with classic galactosemia and primary ovarian insufficiency

Erven

Berry

Cassiman

et al. 2017

Fertility and Sterility

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Ovarian tissue cryopreservation and subsequent spontaneous pregnancies in a patient with classic galactosemia

Cited by 10 publications

References 27 publications

Primary ovarian insufficiency in classic galactosemia: current understanding and future research opportunities

Primary ovarian insufficiency in classic galactosemia: current understanding and future research opportunities

Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations

Fertility in adult women with classic galactosemia and primary ovarian insufficiency

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